Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol ACVR1 contributors: shn/npt/pgu - updated : 03-04-2018
HGNC name activin A receptor, type I
HGNC id 171
  • Postnatal overexpression of constitutively active Q207D-mutant Alk2 in the left hindlimbs of mice led development of ectopic endochondral bone formation, joint fusion, and functional impairment, thus phenocopying key aspects of human FOP .
  • Acvr1 conditional mouse knockout leads to an increase in apoptosis of lens epithelial and fiber cells resulting in smaller sizes of Acvr1 CKO mouse lenses
  • Acvr1 deficiency in mouse embryonic fibroblasts (MEFs) resulted in severe defects in their quiescence-induced primary cilia
  • bone mass was increased in the Acvr1-null mice
  • Acvr1(CKO) mice are viable but exhibit defects in the development of cranial and axial structures